ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2335del (p.Gln779fs)

dbSNP: rs2061687300
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258076 SCV001434909 likely pathogenic Brugada syndrome 1; Long QT syndrome 3 2018-10-08 criteria provided, single submitter clinical testing The c.2335delC (p.Gln779Argfs*23) variant in the SCN5A gene is predicted to introduce a premature translation termination codon. This variant has never been reported in general population databases. Therefore, this c.2335delC (p.Gln779Argfs*23) variant in the SCN5A gene is classified as likely pathogenic.

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